KLHL42

Summary

KLHL42 (kelch like family member 42, HGNC:29252) is a protein-coding gene on chromosome 12p11.22, encoding Kelch-like protein 42 (Q9P2K6). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis.

Contributes to ubiquitin-protein transferase activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein polyubiquitination; and regulation of microtubule-based process. Part of Cul3-RING ubiquitin ligase complex.

Source: NCBI Gene 57542 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_020782

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29252
Approved symbol	KLHL42
Name	kelch like family member 42
Location	12p11.22
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1340, Ctb9
Ensembl gene	ENSG00000087448
Ensembl biotype	protein_coding
OMIM	618919
Entrez	57542

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000381271, ENST00000539176, ENST00000540301, ENST00000543254, ENST00000649445, ENST00000874185

RefSeq mRNA: 1 — MANE Select: NM_020782 NM_020782

CCDS: CCDS31763

Canonical transcript exons

ENST00000381271 — 3 exons

Exon	Start	End
ENSE00000467270	27791708	27791901
ENSE00001488023	27797715	27803040
ENSE00002269340	27780233	27781202

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 98.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4700 / max 84.3781, expressed in 1627 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124850	4.1530	1583
124849	0.8155	370
124848	0.2028	104
124846	0.1178	32
124847	0.1105	45
124845	0.0704	31

Top tissues by expression

250 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.35	gold quality
medial globus pallidus	UBERON:0002477	97.47	gold quality
secondary oocyte	CL:0000655	96.76	gold quality
globus pallidus	UBERON:0001875	96.20	gold quality
tibia	UBERON:0000979	95.65	gold quality
tendon of biceps brachii	UBERON:0008188	95.60	gold quality
middle temporal gyrus	UBERON:0002771	95.56	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.44	gold quality
epithelial cell of pancreas	CL:0000083	95.27	gold quality
visceral pleura	UBERON:0002401	93.91	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.77	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.97	gold quality
saphenous vein	UBERON:0007318	92.58	gold quality
descending thoracic aorta	UBERON:0002345	92.51	gold quality
parietal lobe	UBERON:0001872	92.36	gold quality
substantia nigra pars compacta	UBERON:0001965	92.27	gold quality
oviduct epithelium	UBERON:0004804	92.26	gold quality
entorhinal cortex	UBERON:0002728	92.18	gold quality
postcentral gyrus	UBERON:0002581	92.15	gold quality
oocyte	CL:0000023	92.10	gold quality
dorsal plus ventral thalamus	UBERON:0001897	92.04	gold quality
superior frontal gyrus	UBERON:0002661	91.88	gold quality
thoracic aorta	UBERON:0001515	91.78	gold quality
ascending aorta	UBERON:0001496	91.58	gold quality
lateral globus pallidus	UBERON:0002476	91.50	gold quality
occipital lobe	UBERON:0002021	91.42	gold quality
subthalamic nucleus	UBERON:0001906	91.36	gold quality
inferior vagus X ganglion	UBERON:0005363	91.29	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.23	gold quality
urethra	UBERON:0000057	91.07	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

190 targeting KLHL42, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642

Literature-anchored findings (GeneRIF, showing 2)

• Cul3-deficient cells or Ctb9/KLHDC5-deficient cells show an increase in p60/katanin levels, indicating that Cul3/Ctb9/KLHDC5 is required for efficient p60/katanin removal (PMID:19261606)
• Kelch-like protein 42 is a profibrotic ubiquitin E3 ligase involved in systemic sclerosis. (PMID:32071084)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	klhl42	ENSDARG00000006011
mus_musculus	Klhl42	ENSMUSG00000040102
rattus_norvegicus	Klhl42	ENSRNOG00000001844

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch-like protein 42 — Q9P2K6 (reviewed: Q9P2K6)

Alternative names: Cullin-3-binding protein 9, Kelch domain-containing protein 5

All UniProt accessions (4): Q9P2K6, B2RNT7, F5H523, H0YGN2

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis.

Subunit / interactions. Component of the BCR(KLHL42) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL42. Interacts (via the BTB domain) with CUL3. Interacts (via the kelch domains) with KATNA1.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle.

Induction. Up-regulated during mitosis.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_065833* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR006652	Kelch_1	Repeat
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR044727	KLHL42_BACK	Domain
IPR052392	Kelch-BTB_domain-containing	Family
IPR056737	Beta-prop_ATRN-MKLN-like	Domain

Pfam: PF07707, PF24981

UniProt features (9 total): repeat 6, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2K6-F1	85.98	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 43

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 165 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GCM_ZNF198, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MOTAMED_RESPONSE_TO_ANDROGEN_DN, chr12p11, AGTCTTA_MIR499, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP

GO Biological Process (5): protein polyubiquitination (GO:0000209), regulation of microtubule-based process (GO:0032886), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), cell division (GO:0051301), protein ubiquitination (GO:0016567)

GO Molecular Function (2): ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515)

GO Cellular Component (5): spindle (GO:0005819), cytosol (GO:0005829), Cul3-RING ubiquitin ligase complex (GO:0031463), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
cellular anatomical structure	2
protein ubiquitination	1
microtubule-based process	1
regulation of cellular process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cellular process	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
binding	1
microtubule cytoskeleton	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLHL42	CUL3	Q13618	628
KLHL42	CCDC91	Q7Z6B0	574
KLHL42	ASB6	Q9NWX5	528
KLHL42	FILIP1	Q7Z7B0	507
KLHL42	GLT8D1	Q68CQ7	505
KLHL42	RNF34	Q969K3	501
KLHL42	PTHLH	P12272	482
KLHL42	TRIM37	O94972	480
KLHL42	KATNA1	O75449	479
KLHL42	ANKRD55	Q3KP44	477
KLHL42	HMG20A	Q9NP66	474
KLHL42	DDX11	Q96FC9	455
KLHL42	ZFAND3	Q9H8U3	454
KLHL42	ZFAND6	Q6FIF0	452
KLHL42	FBXO41	Q8TF61	451

IntAct

206 interactions, top by confidence:

A	B	Type	Score
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
STAM2	KLHL42	psi-mi:“MI:0915”(physical association)	0.720
KLHL42	TRIM23	psi-mi:“MI:0915”(physical association)	0.720
KLHL42	DDI1	psi-mi:“MI:0915”(physical association)	0.720
KLHL42	STAM2	psi-mi:“MI:0915”(physical association)	0.720
DDI1	KLHL42	psi-mi:“MI:0915”(physical association)	0.720
TRIM23	KLHL42	psi-mi:“MI:0915”(physical association)	0.720
KLHL42	SERTAD1	psi-mi:“MI:0915”(physical association)	0.670
KLHL42	UBQLN1	psi-mi:“MI:0915”(physical association)	0.670
CUL3	ENC1	psi-mi:“MI:0914”(association)	0.640
GLMN	FKBP5	psi-mi:“MI:0914”(association)	0.640
OSTF1	RP2	psi-mi:“MI:0914”(association)	0.640
DAO	KLHL42	psi-mi:“MI:0915”(physical association)	0.620
KLHL42	STXBP4	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO2	KLHL42	psi-mi:“MI:0915”(physical association)	0.560
FAM168A	KLHL42	psi-mi:“MI:0915”(physical association)	0.560
KLHL42	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
SSX2IP	KLHL42	psi-mi:“MI:0915”(physical association)	0.560
KLHL42	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.560
KLHL42	FAM168A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (137): KLHL42 (Two-hybrid), KLHL42 (Two-hybrid), KLHL42 (Two-hybrid), KLHL42 (Two-hybrid), KLHL42 (Two-hybrid), SSX2IP (Two-hybrid), STXBP4 (Two-hybrid), DDI1 (Two-hybrid), KLHL42 (Affinity Capture-MS), KLHL42 (Affinity Capture-MS), KLHL42 (Affinity Capture-MS), USHBP1 (Two-hybrid), KLHL42 (Affinity Capture-MS), KLHL42 (Affinity Capture-MS), KLHL42 (Affinity Capture-MS)

ESM2 similar proteins: A5YM72, A6H687, A6NE02, A6NKF1, A8MY62, C9JR72, D3KCC4, D3ZU57, E1BD59, O08644, O15197, O19179, O95382, P0C0K6, P0C0K7, P0DPD7, P10938, P51840, P52785, P52824, P55203, P98161, Q01634, Q02846, Q08DG4, Q08DH8, Q0VCE3, Q2T9T9, Q3U6U5, Q5JZY3, Q6ZPS2, Q6ZVZ8, Q8BFQ9, Q8BYG9, Q8C828, Q8CIG9, Q8N239, Q8VHA6, Q96CD0, Q96KV7

Diamond homologs: A2APT9, A6NCF5, C9JR72, O94819, Q2T9Z7, Q5R866, Q5RDY3, Q5VTJ3, Q5ZLD3, Q6PF15, Q6ZPT1, Q8BFQ9, Q8BGY4, Q8BNW9, Q8C3F7, Q8C828, Q920Q8, Q96G42, Q9P2J3, Q9P2K6, A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, D3Z8N4, G3X9X1, O15062, O15209, O35260, O43829

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KLHL42	“down-regulates quantity by destabilization”	PPP2R5E	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 146 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
DNA Damage Recognition in GG-NER	6	18.6×	2e-04
Formation of TC-NER Pre-Incision Complex	6	13.8×	5e-04
Cargo recognition for clathrin-mediated endocytosis	8	9.1×	4e-04
Neddylation	15	7.7×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein neddylation	10	52.8×	9e-13
regulation of protein neddylation	7	49.3×	2e-08
protein ubiquitination	15	4.7×	2e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	11	4.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

759 predictions. Top by Δscore:

Variant	Effect	Δscore
12:27781903:G:GT	donor_gain	1.0000
12:27791707:GGTCT:G	acceptor_gain	1.0000
12:27797710:TTCA:T	acceptor_loss	1.0000
12:27797711:TCAG:T	acceptor_loss	1.0000
12:27797713:A:AG	acceptor_gain	1.0000
12:27797713:A:C	acceptor_loss	1.0000
12:27797713:AGACC:A	acceptor_gain	1.0000
12:27797714:G:GA	acceptor_gain	1.0000
12:27797714:GACC:G	acceptor_gain	1.0000
12:27797714:GACCG:G	acceptor_gain	1.0000
12:27781199:AGAGG:A	donor_loss	0.9900
12:27781200:GAG:G	donor_gain	0.9900
12:27781201:AGGT:A	donor_loss	0.9900
12:27781202:GGTAA:G	donor_loss	0.9900
12:27781203:G:T	donor_loss	0.9900
12:27781204:T:G	donor_loss	0.9900
12:27791702:TTTCA:T	acceptor_loss	0.9900
12:27791703:TTCA:T	acceptor_loss	0.9900
12:27791704:TCAGG:T	acceptor_loss	0.9900
12:27791705:CAGG:C	acceptor_loss	0.9900
12:27791706:A:AG	acceptor_gain	0.9900
12:27791707:G:GG	acceptor_gain	0.9900
12:27791707:G:GT	acceptor_loss	0.9900
12:27791707:GGT:G	acceptor_gain	0.9900
12:27791776:T:G	donor_gain	0.9900
12:27791899:GAG:G	donor_gain	0.9900
12:27791901:GGT:G	donor_gain	0.9900
12:27791902:GTA:G	donor_gain	0.9900
12:27797714:GA:G	acceptor_gain	0.9900
12:27797714:GAC:G	acceptor_gain	0.9900

AlphaMissense

3305 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:27781171:T:A	W281R	1.000
12:27781171:T:C	W281R	1.000
12:27791805:T:A	W324R	1.000
12:27791805:T:C	W324R	1.000
12:27780356:T:C	I9T	0.999
12:27780398:T:C	L23P	0.999
12:27780419:T:C	F30S	0.999
12:27781015:T:A	W229R	0.999
12:27781015:T:C	W229R	0.999
12:27781105:G:C	G259R	0.999
12:27781106:G:A	G259D	0.999
12:27781106:G:T	G259V	0.999
12:27781108:G:A	G260R	0.999
12:27781108:G:C	G260R	0.999
12:27781108:G:T	G260W	0.999
12:27781109:G:A	G260E	0.999
12:27781150:T:G	Y274D	0.999
12:27781173:G:C	W281C	0.999
12:27781173:G:T	W281C	0.999
12:27781202:G:C	R291T	0.999
12:27791708:G:C	R291S	0.999
12:27791708:G:T	R291S	0.999
12:27791745:T:G	Y304D	0.999
12:27791749:C:A	A305D	0.999
12:27791755:G:A	G307E	0.999
12:27791784:T:G	Y317D	0.999
12:27791806:G:C	W324S	0.999
12:27791807:G:C	W324C	0.999
12:27791807:G:T	W324C	0.999
12:27791878:T:A	V348D	0.999

dbSNP variants (sampled 300 via entrez): RS1000117258 (12:27785550 A>G), RS1000165570 (12:27789718 T>C), RS1000189617 (12:27786866 G>C), RS1000812772 (12:27797028 G>A), RS1000885249 (12:27798828 A>C), RS1000890553 (12:27779052 A>G), RS1000940955 (12:27779255 G>A), RS1001064766 (12:27794802 CTT>C,CT,CTTT,CTTTT), RS1001302892 (12:27802465 C>A), RS1001364656 (12:27802856 A>G), RS1001419616 (12:27791346 G>A), RS1001713413 (12:27798433 G>A), RS1001715336 (12:27789190 T>A), RS1001776438 (12:27781809 A>G), RS1001962285 (12:27796070 T>C)

Disease associations

OMIM: gene MIM:618919 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST001854_9	Retinopathy in non-diabetics	6.000000e-06
GCST002352_52	Type 2 diabetes	8.000000e-06
GCST002492_2	Bone mineral density (paediatric, lower limb)	3.000000e-08
GCST002492_7	Bone mineral density (paediatric, lower limb)	1.000000e-07
GCST002494_12	Bone mineral density (paediatric, total body less head)	4.000000e-07
GCST002494_5	Bone mineral density (paediatric, total body less head)	4.000000e-08
GCST003400_5	Type 2 diabetes	2.000000e-06
GCST003818_2	Resting heart rate	3.000000e-09
GCST003854_18	Gut microbiota (functional units)	3.000000e-08
GCST003854_42	Gut microbiota (functional units)	3.000000e-08
GCST004894_10	Type 2 diabetes	2.000000e-10
GCST004894_113	Type 2 diabetes	9.000000e-12
GCST005047_105	Type 2 diabetes	3.000000e-08
GCST005047_21	Type 2 diabetes	6.000000e-10
GCST005414_12	Type 2 diabetes	3.000000e-06
GCST006867_105	Type 2 diabetes	1.000000e-16
GCST007091_22	Osteoarthritis (hip)	1.000000e-24
GCST007515_36	Type 2 diabetes	1.000000e-11
GCST007516_16	Type 2 diabetes (adjusted for BMI)	2.000000e-08
GCST007517_18	Type 2 diabetes	2.000000e-09
GCST007518_24	Type 2 diabetes (adjusted for BMI)	3.000000e-08
GCST007691_2	Femoral neck bone mineral density	2.000000e-12
GCST007847_13	Type 2 diabetes	7.000000e-14
GCST008839_339	Height	7.000000e-22
GCST009379_336	Type 2 diabetes	4.000000e-20
GCST010002_212	Refractive error	2.000000e-13
GCST010118_128	Type 2 diabetes	7.000000e-21
GCST010796_4831	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0007785	femoral neck bone mineral density
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
trichostatin A	affects expression, decreases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
beta-lapachone	increases expression	1
arsenite	increases methylation	1
butyraldehyde	decreases expression	1
cupric oxide	decreases expression	1
HC toxin	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
beta-methylcholine	affects expression	1
3-deazaneplanocin	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
entinostat	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Bleomycin	increases expression	1
Camptothecin	increases expression	1
Deoxyglucose	increases expression	1
Dieldrin	decreases response to substance	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.